A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv417e59



Internal ID20127166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47379118..47382116hg38UCSC Ensembl
chr10:48357246..48360244hg19UCSC Ensembl
chr10:47977252..47980250hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3382713, esv3395919
SamplesNA19239, NA19240
Known GenesZNF488
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv417e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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